Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.400 | X | 71127367 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 6 | 157198907 | splice region variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.320 | 12 | 49185140 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 155524537 | missense variant | G/A | snv | 5.5E-06 | 1.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 53339808 | missense variant | G/A | snv | 1.5E-04 | 7.7E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 18 | 52923832 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 14 | 99175513 | missense variant | A/C;G | snv | 4.1E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 9 | 131506164 | inframe deletion | CTT/- | delins | 3.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.240 | 17 | 7674927 | missense variant | G/A;C | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.240 | 8 | 30183156 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 10 | 117134559 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 18 | 53339775 | missense variant | A/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 49193294 | missense variant | G/A | snv | 1.4E-04 | 7.5E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | X | 111196503 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | X | 70329420 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 12 | 49186657 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 70766245 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 2 | 60546061 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.360 | 19 | 13025409 | missense variant | G/A | snv |
|
0.700 | 0 |